Mark your calendar! Dr. Fumihiko Urano to Present on Rare Disease Day at NIH 2024

Mark your calendar! Dr. Fumihiko Urano to Present on Rare Disease Day at NIH 2024

Dr. Urano received an invitation to present his research on Wolfram Syndrome at the Rare Disease Day event held at the National Institutes of Health on February 29, at 2:20 Eastern Time. This event is widely regarded as one of the most prestigious gatherings for rare diseases, offering an excellent platform for us to raise awareness about Wolfram Syndrome. You can participate by watching his presentation remotely. The link to access it: https://ncats.nih.gov/news-events/events/rdd

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Golf Shootout 2024 – September 9, 2024

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Donate today for Rare Disease Day

The true power of giving is the ability of our supporters to leverage their own personal networks. Help us raise $5,000 this month for Rare Disease Day, February 29th. Donate online

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Rare Disease Day is February 29th

Rare Disease Day is February 29th. Please help the Snow Foundation raise some awareness and funding.  Our goal is to raise $5,000 this month.  Please share and start your fundraiser on Facebook today, donate online

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Wolframin and SERCA – Molecular Partners

Publication: ncbi.nlm.nih.gov | Publication Date: September 30, 2014

Authors: Zatyka, M., Da Silva Xavier, G., Bellomo, E. A., Leadbeater, W., Astuti, D., Smith, J., Michelangeli, F., Rutter, G. A., & Barrett, T. G.

Abstract

Wolfram syndrome is an autosomal recessive disorder characterized by neurodegeneration and diabetes mellitus. The gene responsible for the syndrome (WFS1) encodes an endoplasmic reticulum (ER)-resident transmembrane protein that is involved in the regulation of the unfolded protein response (UPR), intracellular ion homeostasis, cyclic adenosine monophosphate production and regulation of insulin biosynthesis and secretion. Read more

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Wolframin and Calcium Homeostasis

Publication: jbc.org | Publication Date: December 2003

Authors: Abdullah A. Osman, Mitsuyoshi Saito, Carol Makepeace, M. Alan Permutt, Paul Schlesinger, Mike Mueckler

Wolfram syndrome is an autosomal recessive neuro-degenerative disorder associated with juvenile onset non-autoimmune diabetes mellitus and progressive optic atrophy. The disease has been attributed to mutations in the WFS1 gene, which codes for a protein predicted to possess 9–10 transmembrane segments. Little is known concerning the function of the WFS1 protein (wolframin). Read more

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Wolfram Syndrome: Diagnosis, Management, and Treatment

Publication: ncbi.nlm.nih.gov | Publication Date: 2016

Authors: Fumihiko Urano

Abstract

Wolfram syndrome is a rare genetic disorder characterized by juvenile-onset diabetes mellitus, diabetes insipidus, optic nerve atrophy, hearing loss, and neurodegeneration. Although there are currently no effective treatments that can delay or reverse the progression of Wolfram syndrome, the use of careful clinical monitoring and supportive care can help relieve the suffering of patients and improve their quality of life. Read more

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A Curious Case of Repetitive Loss of Consciousness

Publication: cureus.com | Publication Date: October 3, 2023

Authors: Carvalho M M, Jesus R, Mendes A, et al.

Abstract

Wolfram syndrome is a rare, multisystemic, progressive, and autosomal-recessive genetic disease, characterized by diabetes mellitus and diabetes insipidus, optic nerve atrophy, deafness, and other neurological signs. The diagnosis is usually based on history and clinical manifestations but genetic tests are necessary for confirmation. Read more

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Wolfram Syndrome Overview

Publication: rarediseases.org | Publication Date: September 23, 2020

Authors: Hershey, T., Marshall, B., & May, J.

Summary

Wolfram syndrome is an inherited condition that is typically associated with childhood-onset insulin-dependent diabetes mellitus and progressive optic atrophy. In addition, many people with Wolfram syndrome also develop diabetes insipidus and sensorineural hearing loss. Read more

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Wolfram Syndrome as a Mitochondriopathy

Publication: nature.com | Publication Date: March 6, 2018

Authors: Benjamin Delprat, Tangui Maurice & Cécile Delettre

Abstract

Wolfram syndrome (WS) is a rare neurodegenerative disease, the main pathological hallmarks of which associate with diabetes, optic atrophy, and deafness. Other symptoms may be identified in some but not all patients. Prognosis is poor, with death occurring around 35 years of age. Read more

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